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The test is a milestone in prenatal testing because it's the first non-invasive way to detect trisomy 21, the most common cause of Down syndrome. Until now, women have had to undergo amniocentesis or chorionic villus sampling, both invasive tests, to detect Down syndrome. A more recent strategy was to combine ultrasound testing with blood tests, but that test required confirmation with amniocentesis or CVS.
The blood test measures fetal DNA in the mother's bloodstream. It is safe and effective, according to a study published online last week in the journal Genetics in Medicine. That study on pregnancies at high risk for Down syndrome found a detection rate of 98.6% (209 of 212 pregnancies). The false-positive rate was 0.2% (three of 1,471), and testing failed in 13 pregnancies.
Sequenom, the San Diego-based maker of the test, called MaterniT21, said it will initially be available to doctors...